If she hadn’t tested she might never have seen her doctor; never would have asked the right questions; never taken the action she needed to keep herself healthy.
“But for the test I’d have continued to be unaware of my enormous risk for cancer, or worse,” she said. “I will never know the degree to which 23andMe changed my life, but I am super, super grateful.”
Jennifer is an attorney who represents the interests of professional athletes, and doesn’t know a lot about genetics. But she’s a curious person. She took the test to see what she could learn about herself.
“I’m an information seeker by nature,” she said recently. “I didn’t do it for any medical reasons.”
When she got her results, she spent a little bit of time on the fun stuff. The test told her she likely had curly hair and blue eyes, which she does. She got to see how she was an equal mix of her mom’s Irish Catholic ancestry and her dad’s Austrian Jewish ancestry.
“It was so on point on everything. It was fascinating,” she said.
And then she turned to the health data.
“I read something I didn’t recognize. The results said I (had a) BRCA2 mutation,” she said. “I didn’t know what that meant.”
Jennifer points out that she did the test long before the media attention surrounding Angelina Jolie’s revelation that she had mutations in the BRCA1 gene that put her at a higher risk for breast and ovarian cancer. The test Jennifer did with 23andMe looks at three of the hundreds of specific mutations in the BRCA1 and BRCA2 genes that are associated with higher risks for breast and ovarian cancer in women. But these three mutations that 23andMe looks at account for nearly all hereditary breast and ovarian cancers in women with Ashkenazi Jewish ancestry.
After reading through the information on the mutation provided by 23andMe, Jennifer did some additional research. Then she called her father, who is a doctor. She then talked to her own doctor.
Taking into account her family medical history, her ancestry and other information, her California HMO eventually did a much more extensive and expensive test and confirmed her 23andMe result — Jennifer had BRCA2 mutations that put her at much higher risk for breast and ovarian cancer.
She spoke to her doctors and to a genetic counselor about the meaning of what her doctors estimated was now a very high risk for developing cancer. The most troubling results for Jennifer, and her doctors, were her risks for ovarian cancer.
“It’s much harder to detect ovarian cancer, and the treatments are not as potent. I was told that even though my risk for ovarian cancer was lower — about 33 percent by the age of 40 — than that for breast cancer, I was more likely to die from it,” she said.
Considering all the factors, her doctors recommended a double mastectomy and removing her ovaries. Being 40 with such a high risk and no immediate plans for a family, Jennifer felt the choice was clear. If she ultimately decides to start a family, she said she was OK with adoption. So Jennifer went ahead with the surgeries immediately, eliminating any possibility of ovarian cancer and reducing her risk of breast cancer by about 95 percent.
“At the risk of sounding overly dramatic, the test probably saved me from some pretty crummy stuff down the line,” she said.
She wasn’t the only one who benefited. Because the mutation can run in families, Jennifer alerted her siblings.
“I’ll never know what would have happened had I not had the surgeries, but I am 100 percent certain that but for the 23andMe test, I would still be at an enormous risk for, breast and ovarian cancer,” she said. “The information provided by 23andMe allowed me to take the steps necessary to substantially eliminate my risk of breast and ovarian cancer, and it was so incredibly easy — I just spit in a little tube. I am profoundly grateful that I found 23andMe while I was still healthy.”
Results vary due to unique differences in each individual’s DNA. On average, users receive at least one or two results that may help with proactively managing health. 23andMe’s services are NOT a substitute for professional medical or diagnostic advice.